Congenital Muscular Dystrophy Type 1A
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Learn About Congenital Muscular Dystrophy Type 1A

What is the definition of Congenital Muscular Dystrophy Type 1A?
Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting. Other signs and symptoms include rigidity of the spine; scoliosis; and delayed, limited motor development, with most individuals needing assistive devices for mobility. Respiratory problems, feeding disorders and seizures may also occur. With time, affected individuals may develop an elongated face and ophthalmoplegia disorders (paralysis or weakness in muscles of the eye). Intellectual development is typically normal. It is caused by genetic changes in the LAMA2 gene and is inherited in an autosomal recessive manner.
What are the alternative names for Congenital Muscular Dystrophy Type 1A?
  • Congenital muscular dystrophy type 1A
  • Muscular dystrophy white matter spongiosis
  • LAMA2-related muscular dystrophy
  • Laminin alpha-2 deficiency
  • MDC1A
  • Merosin-deficient congenital muscular dystrophy
  • Merosin-negative congenital muscular dystrophy
  • Muscular dystrophy, congenital, merosin-deficient
  • Atrophie blanche
Who are the top Congenital Muscular Dystrophy Type 1A Local Doctors?
Distinguished in Congenital Muscular Dystrophy Type 1A
Distinguished in Congenital Muscular Dystrophy Type 1A

Penn Neuroscience Center - Neurology

3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
Philadelphia, PA 
Languages Spoken:
English
Accepting New Patients

James Dowling is a Neurologist practicing medicine in Philadelphia, Pennsylvania. Dr. Dowling is rated as a Distinguished provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. He is also highly rated in 20 other conditions, according to our data. His clinical expertise encompasses Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is board certified in Neurology - Child Neurology, 2007. Dr. Dowling is currently accepting new patients.

Experienced in Congenital Muscular Dystrophy Type 1A
Neuroradiology | Neurology
Experienced in Congenital Muscular Dystrophy Type 1A
Neuroradiology | Neurology

OSF Illinois Neurological Institute - Neurology

200 East Pennsylvania Avenue, 
Peoria, IL 
Languages Spoken:
English

Christopher Zallek is a Neurologist and a Neuroradiologist practicing medicine in Peoria, Illinois. Dr. Zallek is rated as an Experienced provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Peripheral Neuropathy, Spinal and Bulbar Muscular Atrophy, and Spinal Muscular Atrophy Type 3. Dr. Zallek is board certified in American Board Of Electrodiagnostic Medicine and American Board Of Psychiatry And Neurology.

 
 
 
 
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Advanced in Congenital Muscular Dystrophy Type 1A
Advanced in Congenital Muscular Dystrophy Type 1A

Duke Electromyography Laboratory - Clinic 1L

40 Duke Medicine Cir, 
Durham, NC 
Experience:
37+ years
Languages Spoken:
English
Offers Telehealth

Vern Juel is a Neurologist practicing medicine in Durham, North Carolina. He has been practicing medicine for over 37 years. Dr. Juel is rated as an Advanced provider by MediFind in the treatment of Congenital Muscular Dystrophy Type 1A. He is also highly rated in 71 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Lambert-Eaton Syndrome, Inclusion Body Myositis, Meige Syndrome, and Thymectomy. Dr. Juel is board certified in American Board Of Psychiatry/Neurology, Clinical Neurophysiology , American Board Of Psychiatry/Neurology, Neurology , and American Board Of Psychiatry/Neurology, Neuromuscular Medicine.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center